Canonical Allele Identifier: CA2038991211

Gene: CYP27B1

Linked Data

• dbSNP Id: rs1955360258
• gnomAD v4: 12-57766277-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57766277G>C , CM000674.2:g.57766277G>C	GRCh38
NC_000012.11:g.58160060G>C , CM000674.1:g.58160060G>C	GRCh37
NC_000012.10:g.56446327G>C	NCBI36
NG_007076.1:g.5917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546609.2:n.108-80C>G
ENST00000713544.1:c.196-80C>G	ENSP00000518840.1:n.196-80C>G
ENST00000713545.1:c.196-80C>G	ENSP00000518841.1:n.196-80C>G
ENST00000228606.9:c.196-80C>G MANE Select	ENSP00000228606.4:n.196-80C>G
ENST00000228606.8:c.196-80C>G	ENSP00000228606.4:n.196-80C>G
ENST00000546496.1:n.24-80C>G
ENST00000546609.1:c.108-80C>G
ENST00000547344.5:n.250-80C>G
ENST00000552186.1:n.235C>G
NM_000785.3:c.196-80C>G	NP_000776.1:n.196-80C>G
NM_000785.4:c.196-80C>G MANE Select	NP_000776.1:n.196-80C>G